| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 8 | 99134644 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | X | 153580229 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.240 | 3 | 46459723 | missense variant | T/C | snv | 0.41 | 0.51 |
|
0.020 | < 0.001 | 2 | 2014 | 2018 | |||||||
|
0.807 | 0.200 | 3 | 46459778 | missense variant | C/T | snv | 0.34 | 0.53 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 1 | 8949385 | missense variant | A/C | snv | 0.49 | 0.51 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 8979645 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
0.716 | 0.360 | 11 | 102842889 | missense variant | T/C | snv | 0.58 | 0.57 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 3 | 46456334 | missense variant | T/A;C | snv | 8.0E-06; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 4 | 70640695 | intron variant | A/G | snv | 0.47 |
|
0.030 | 0.667 | 3 | 2016 | 2019 | ||||||||
|
0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 |
|
0.030 | 1.000 | 3 | 2014 | 2018 | |||||||
|
0.790 | 0.480 | 10 | 52772254 | upstream gene variant | G/C | snv | 0.31 |
|
0.020 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
0.708 | 0.440 | 8 | 6877901 | 5 prime UTR variant | C/G;T | snv | 0.79 |
|
0.020 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 49995062 | 5 prime UTR variant | G/A | snv | 0.27 |
|
0.020 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.882 | 0.120 | 4 | 70643714 | missense variant | G/A | snv | 7.0E-02 | 0.13 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.925 | 0.080 | 4 | 70643369 | missense variant | T/C | snv | 8.0E-02 | 0.17 |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 86677054 | regulatory region variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 12828774 | intron variant | A/G | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 7 | 105633273 | intron variant | A/C | snv | 6.2E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 8 | 6870676 | 3 prime UTR variant | C/T | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 12 | 10551751 | upstream gene variant | T/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |